Dados do Trabalho

Título

Centronuclear Myopathy: a Case Report

RESUMO

Case presentation: M. S, 48 years old, female, living in João Pessoa, admitted with a complaint of muscle weakness with progressive worsening since the age of 20. She reported difficulty walking, running and climbing stairs associated with falls, fatigue, significant dysphagia for solids and difficulty holding objects, with progression of symptoms over the years. The patient reports that limb weakness intensified during and after pregnancy at age 32. She is apathetic, and reports nocturnal awakenings and frequent choking. On physical examination, she has proximal tetraparesis, grade 3 muscle strength in iliopsoas, deltoids and biceps, and grade 4 in the other muscle groups; global areflexia; positive Gowers sign, myopathic lifting and falling, limiting limb movement. In October 2020, she underwent an echocardiogram, which showed mild tricuspid valve regurgitation. In addition, she has a family history of muscle weakness, a great-grandmother and two sisters, and the biopsy of a sister is compatible with an autosomal dominant centronuclear myopathy. She denies consanguinity between her parents. Polysomnography, electroneuromyography (ENMG) and muscle biopsy were requested. ENMG showed a predominantly proximal myopathic pattern. The histological result was compatible with autosomal dominant centronuclear myopathy. Polysomnography showed 1 episode of desaturation. The patient was referred for neurorehabilitation in order to receive multidisciplinary care, in addition to receiving genetic counseling. Discussion: Centronuclear myopathy is a congenital muscle disorder with a heterogeneous clinical presentation, which usually involves muscle fatigue, muscle atrophy and varied cardiorespiratory involvement, characterized histologically by the prominence of muscle fibers with centralized nuclei. The patient in the present case reports a progressive worsening of symptoms, emphasizing a decline in strength after pregnancy. Furthermore, the presence of dysphagia, with episodes of postprandial choking, was also reported. Even with this situation, she is completely independent for daily activities, with maintenance of quality of life, with multidisciplinary follow-up. Final comments: Finally, the present case has its relevance in reporting a case of centronuclear myopathy, a rare disease with an incidence of 1:100,000 live births, with the presence of atypical findings, as well as the association of the patient with worsening of symptoms after pregnancy.